Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

Influence of Actin Mutation on the Energy Landscape of Actin-Tropomyosin Filaments

(2013) Marek Orzechowski et al.   BIOPHYSICAL JOURNAL

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies

(2013) Ann E. Davidson et al.   BRAIN

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

(2013) Nancy Mokbel et al.   BRAIN

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

(2013) Steven Marston et al.   HUMAN MOLECULAR GENETICS

Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function

(2013) Massimiliano Memo et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

(2012) Giorgio Tasca et al.   ACTA NEUROPATHOLOGICA

Tropomyosin Ser-283 pseudo-phosphorylation slows myofibril relaxation

(2012) Benjamin R. Nixon et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Structure of the Rigor Actin-Tropomyosin-Myosin Complex

(2012) Elmar Behrmann et al.   CELL

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms

(2012) J. Ochala et al.   HUMAN MOLECULAR GENETICS

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

(2012) Andrea Klein et al.   HUMAN MUTATION

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Myopathies associated with β-tropomyosin mutations

(2012) H. Tajsharghi et al.   NEUROMUSCULAR DISORDERS

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness inTPM2-related nemaline and cap myopathy

(2011) Minttu Marttila et al.   BIOCHEMICAL JOURNAL

Tropomyosin Position on F-Actin Revealed by EM Reconstruction and Computational Chemistry

(2011) Xiaochuan (Edward) Li et al.   BIOPHYSICAL JOURNAL

Evolutionarily conserved surface residues constitute actin binding sites of tropomyosin

(2011) B. Barua et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nemaline Myopathies

(2011) Carina Wallgren-Pettersson et al.   Seminars in Pediatric Neurology

A Tissue-Specific Atlas of Mouse Protein Phosphorylation and Expression

(2010) Edward L. Huttlin et al.   CELL

Cytosolic RNA Recognition Pathway Activates 14-3-3 Protein Mediated Signaling and Caspase-Dependent Disruption of Cytokeratin Network in Human Keratinocytes

(2010) Tiina Öhman et al.   JOURNAL OF PROTEOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

(2009) Michael W. Lawlor et al.   HUMAN MUTATION

Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

(2009) Nicole Monnier et al.   NEUROMUSCULAR DISORDERS

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

(2009) Nigel F. Clarke et al.   NEUROMUSCULAR DISORDERS

A TPM3 mutation causing cap myopathy

(2009) Andre Maues De Paula et al.   NEUROMUSCULAR DISORDERS

Mutations inTPM3are a common cause of congenital fiber type disproportion

(2008) Nigel F. Clarke et al.   ANNALS OF NEUROLOGY

Shark skeletal muscle tropomyosin is a phosphoprotein

(2008) Michael Hayley et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

New morphologic and genetic findings in cap disease associated with  -tropomyosin (TPM2) mutations

(2008) M. Ohlsson et al.   NEUROLOGY

Structural basis for tropomyosin overlap in thin (actin) filaments and the generation of a molecular swivel by troponin-T

(2008) K. Murakami et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA